Primary Identifier | MGI:97362 | Organism | mouse, laboratory |
Chromosome | 5 | NCBI Gene Number | 18127 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables nitric-oxide synthase activity and scaffold protein binding activity. Involved in several processes, including heart development; negative regulation of muscle hyperplasia; and smooth muscle hyperplasia. Acts upstream of with a positive effect on positive regulation of gene expression. Acts upstream of or within several processes, including lipopolysaccharide-mediated signaling pathway; nitric oxide biosynthetic process; and regulation of metal ion transport. Located in cytoplasm and nucleus. Is expressed in several structures, including alimentary system; cardiovascular system; genitourinary system; hemolymphoid system gland; and nervous system. Used to study aortic valve disease; essential hypertension; persistent fetal circulation syndrome; and type 2 diabetes mellitus. Human ortholog(s) of this gene implicated in several diseases, including artery disease (multiple); eye disease (multiple); leukemia (multiple); reproductive organ cancer (multiple); and vasculitis (multiple). Orthologous to human NOS3 (nitric oxide synthase 3). PHENOTYPE: Homozygotes for targeted null mutations exhibit reduced survival, hypertension, inhibited basal vasodilation, insulin resistance, fewer mitochondria, reduced heart rate, impaired ovulation and, in some, shortened limbs. [provided by MGI curators] |